Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156006 | SCV000205718 | likely benign | not specified | 2013-08-06 | criteria provided, single submitter | clinical testing | Asp9Asp in exon 1 of SPRED1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. |
Invitae | RCV002056109 | SCV002421812 | likely benign | Legius syndrome | 2023-09-04 | criteria provided, single submitter | clinical testing |